Associated Papers
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Yuan B et al.
Genome Medicine, 2022
36180924 (PubMed )
Supplement: 13073_2022_1113_MOESM1_ESM.xlsx › Table_S6
Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3.
Della Marina A et al.
Cells, 2021
Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.
Bhat S et al.
Pharmacology & Therapeutics, 2021
SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy.
Hakonen AH et al.
American Journal of Medical Genetics. Part A, 2019
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